U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    MECOM MDS1 and EVI1 complex locus [ Homo sapiens (human) ]

    Gene ID: 2122, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    MECOMprovided by HGNC
    Official Full Name
    MDS1 and EVI1 complex locusprovided by HGNC
    Primary source
    HGNC:HGNC:3498
    See related
    Ensembl:ENSG00000085276 MIM:165215; AllianceGenome:HGNC:3498
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EVI1; MDS1; KMT8E; PRDM3; RUSAT2; MDS1-EVI1; AML1-EVI-1
    Summary
    The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
    Expression
    Broad expression in stomach (RPKM 15.9), kidney (RPKM 12.6) and 18 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See MECOM in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169083507..169663712, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (171867472..172447663, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (168801295..169381500, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:168720282-168721053 Neighboring gene uncharacterized LOC107986051 Neighboring gene long intergenic non-protein coding RNA 1997 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14872 Neighboring gene Sharpr-MPRA regulatory region 14107 Neighboring gene VISTA enhancer hs1433 Neighboring gene uncharacterized LOC124909454 Neighboring gene uncharacterized LOC105374206 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:169027108-169028307 Neighboring gene MECOM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:169200343-169200843 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66618 Neighboring gene ribosomal protein L22 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:169281185-169282384 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66711 Neighboring gene uncharacterized LOC124906301 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:169378582-169379302 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14873 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:169384421-169384937 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:169386901-169387402 Neighboring gene RNA, U6 small nuclear 637, pseudogene Neighboring gene succinate dehydrogenase complex subunit D pseudogene 3

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Outcome of 3q26.2/MECOM rearrangements in chronic myeloid leukemia.
      Title: Outcome of 3q26.2/MECOM rearrangements in chronic myeloid leukemia.
    2. Oncogene EVI1 drives acute myeloid leukemia via a targetable interaction with CTBP2.
      Title: Oncogene EVI1 drives acute myeloid leukemia via a targetable interaction with CTBP2.
    3. A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
      Title: A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.
    4. Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.
      Title: Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.
    5. MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development.
      Title: MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development.
    6. Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
      Title: Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
    7. Epigenetic landscape reveals MECOM as an endothelial lineage regulator.
      Title: Epigenetic landscape reveals MECOM as an endothelial lineage regulator.
    8. EVI1 exerts distinct roles in AML via ERG and cyclin D1 promoting a chemoresistant and immune-suppressive environment.
      Title: EVI1 exerts distinct roles in AML via ERG and cyclin D1 promoting a chemoresistant and immune-suppressive environment.
    9. The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes.
      Title: The adverse impact of ecotropic viral integration site-1 (EVI1) overexpression on the prognosis of acute myeloid leukemia with KMT2A gene rearrangement in different risk stratification subtypes.
    10. SF3B1 mutations in AML are strongly associated with MECOM rearrangements and may be indicative of an MDS pre-phase.
      Title: SF3B1 mutations in AML are strongly associated with MECOM rearrangements and may be indicative of an MDS pre-phase.
    Submit: New GeneRIF Correction See all GeneRIFs (166)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
    MedGen: C4225221 OMIM: 616738 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of aging.
    EBI GWAS Catalog
    A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
    EBI GWAS Catalog
    Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
    EBI GWAS Catalog
    Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    EBI GWAS Catalog
    Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
    EBI GWAS Catalog
    Genome-wide association study identifies eight loci associated with blood pressure.
    EBI GWAS Catalog
    Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
    EBI GWAS Catalog
    Genome-wide association study of blood pressure and hypertension.
    EBI GWAS Catalog
    Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
    EBI GWAS Catalog
    Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    Replication interactions

    Interaction Pubs
    Knockdown of MDS1 and EVI1 complex locus (MECOM) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC97004, MGC163392

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H3 methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables histone H3K9 methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone H3K9 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K9me2 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic stem cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in heterochromatin organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of programmed cell death IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of histone deacetylase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    histone-lysine N-methyltransferase MECOM
    Names
    AML1-EVI-1 fusion protein
    MDS1 and EVI1 complex locus protein EVI1
    MDS1 and EVI1 complex locus protein MDS1
    PR domain 3
    ecotropic virus integration site 1 protein homolog
    myelodysplasia syndrome-associated protein 1
    oncogene EVI1
    zinc finger protein Evi1
    NP_001098547.3
    NP_001098548.2
    NP_001157471.1
    NP_001157472.1
    NP_001192123.1
    NP_001353395.1
    NP_001353396.1
    NP_001353397.1
    NP_001353398.1
    NP_001353399.1
    NP_001353400.1
    NP_001353401.1
    NP_001353402.1
    NP_001353403.1
    NP_004982.2
    NP_005232.2
    XP_005247270.1
    XP_005247271.1
    XP_005247278.1
    XP_011510848.1
    XP_047303633.1
    XP_047303634.1
    XP_047303635.1
    XP_047303636.1
    XP_047303637.1
    XP_047303638.1
    XP_047303639.1
    XP_047303640.1
    XP_047303641.1
    XP_047303642.1
    XP_047303643.1
    XP_047303644.1
    XP_047303645.1
    XP_047303646.1
    XP_047303647.1
    XP_047303648.1
    XP_047303649.1
    XP_047303650.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028279.2 RefSeqGene

      Range
      5064..585269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1118

    mRNA and Protein(s)

    1. NM_001105077.4 → NP_001098547.3  histone-lysine N-methyltransferase MECOM isoform a

      See identical proteins and their annotated locations for NP_001098547.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a.
      Source sequence(s)
      AC078985, BC130520, BX647613
      Consensus CDS
      CCDS54670.1
      UniProtKB/TrEMBL
      C7FEN9
      Related
      ENSP00000264674.3, ENST00000264674.7
      Conserved Domains (4) summary
      sd00017
      Location:800 → 820
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:798 → 820
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:812 → 836
      zf-H2C2_2; Zinc-finger double domain
      cl40432
      Location:2 → 80
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily

    2. NM_001105078.4 → NP_001098548.2  histone-lysine N-methyltransferase MECOM isoform b

      See identical proteins and their annotated locations for NP_001098548.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as EVI1_1b) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.
      Source sequence(s)
      AC078985, AK292865, BX647613
      Consensus CDS
      CCDS3205.1
      UniProtKB/TrEMBL
      C7FEN9
      Related
      ENSP00000419995.1, ENST00000468789.5
      Conserved Domains (6) summary
      PHA00733
      Location:689 → 785
      PHA00733; hypothetical protein
      COG5189
      Location:114 → 207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735 → 755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733 → 755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747 → 771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163 → 247
      zf-C2H2_8; C2H2-type zinc ribbon

    3. NM_001163999.2 → NP_001157471.1  histone-lysine N-methyltransferase MECOM isoform d

      See identical proteins and their annotated locations for NP_001157471.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a portion of the 5' UTR and 5' coding region, initiates translation at a downstream start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AC078985, BC143952, BX647613
      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (4) summary
      PHA00733
      Location:658 → 777
      PHA00733; hypothetical protein
      sd00017
      Location:727 → 747
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:739 → 763
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164 → 248
      zf-C2H2_8; C2H2-type zinc ribbon

    4. NM_001164000.2 → NP_001157472.1  histone-lysine N-methyltransferase MECOM isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as EVI1_1a) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AC078985, BX640908, BX647613
      Consensus CDS
      CCDS54669.1
      UniProtKB/TrEMBL
      C7FEN9
      Related
      ENSP00000419770.1, ENST00000464456.5
      Conserved Domains (5) summary
      PHA00733
      Location:657 → 776
      PHA00733; hypothetical protein
      COG5189
      Location:114 → 207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726 → 746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:738 → 762
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163 → 247
      zf-C2H2_8; C2H2-type zinc ribbon

    5. NM_001205194.2 → NP_001192123.1  histone-lysine N-methyltransferase MECOM isoform b

      See identical proteins and their annotated locations for NP_001192123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.
      Source sequence(s)
      BC130520, BX647613, DC347146, GQ352634
      Consensus CDS
      CCDS3205.1
      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (6) summary
      PHA00733
      Location:689 → 785
      PHA00733; hypothetical protein
      COG5189
      Location:114 → 207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735 → 755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733 → 755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747 → 771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163 → 247
      zf-C2H2_8; C2H2-type zinc ribbon

    6. NM_001366466.2 → NP_001353395.1  histone-lysine N-methyltransferase MECOM isoform f

      Status: REVIEWED

      Source sequence(s)
      AC078985, AK308404, AL700380, DC417787
      Consensus CDS
      CCDS93424.1
      UniProtKB/Swiss-Prot
      A1L4F3, A8KA00, B7Z8W7, B7ZLQ3, B7ZLQ4, C9JAK0, D3DNP7, E7EQ57, Q03112, Q13465, Q13466, Q16122, Q5HYI1, Q6FH90, Q6MZS6, Q8NEI5, Q99917
      UniProtKB/TrEMBL
      C7FEN9
      Related
      ENSP00000417899.1, ENST00000494292.6
      Conserved Domains (6) summary
      PHA00733
      Location:845 → 964
      PHA00733; hypothetical protein
      smart00317
      Location:80 → 196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG5189
      Location:302 → 395
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:914 → 934
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:926 → 950
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:351 → 435
      zf-C2H2_8; C2H2-type zinc ribbon

    7. NM_001366467.2 → NP_001353396.1  histone-lysine N-methyltransferase MECOM isoform g

      Status: REVIEWED

      Source sequence(s)
      AC078985, AK025934
      Consensus CDS
      CCDS93423.1
      UniProtKB/TrEMBL
      A0A0C3SFZ7, C7FEN9
      Conserved Domains (4) summary
      sd00017
      Location:736 → 756
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:734 → 756
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:748 → 772
      zf-H2C2_2; Zinc-finger double domain
      cl40432
      Location:1 → 16
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily

    8. NM_001366468.2 → NP_001353397.1  histone-lysine N-methyltransferase MECOM isoform g

      Status: REVIEWED

      Source sequence(s)
      AC078985, CN272058, DA229108, DB222598
      Consensus CDS
      CCDS93423.1
      UniProtKB/TrEMBL
      A0A0C3SFZ7, C7FEN9
      Conserved Domains (4) summary
      sd00017
      Location:736 → 756
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:734 → 756
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:748 → 772
      zf-H2C2_2; Zinc-finger double domain
      cl40432
      Location:1 → 16
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily

    9. NM_001366469.2 → NP_001353398.1  histone-lysine N-methyltransferase MECOM isoform b

      Status: REVIEWED

      Source sequence(s)
      AC078985, AK025934
      Consensus CDS
      CCDS3205.1
      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (6) summary
      PHA00733
      Location:689 → 785
      PHA00733; hypothetical protein
      COG5189
      Location:114 → 207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735 → 755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733 → 755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747 → 771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163 → 247
      zf-C2H2_8; C2H2-type zinc ribbon

    10. NM_001366470.2 → NP_001353399.1  histone-lysine N-methyltransferase MECOM isoform d

      Status: REVIEWED

      Source sequence(s)
      AC078985, BC031019
      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (4) summary
      PHA00733
      Location:658 → 777
      PHA00733; hypothetical protein
      sd00017
      Location:727 → 747
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:739 → 763
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:164 → 248
      zf-C2H2_8; C2H2-type zinc ribbon

    11. NM_001366471.2 → NP_001353400.1  histone-lysine N-methyltransferase MECOM isoform e

      Status: REVIEWED

      Source sequence(s)
      AC078985, AF487422, DA450456
      Consensus CDS
      CCDS54669.1
      UniProtKB/TrEMBL
      C7FEN9
      Related
      ENSP00000420466.1, ENST00000460814.5
      Conserved Domains (5) summary
      PHA00733
      Location:657 → 776
      PHA00733; hypothetical protein
      COG5189
      Location:114 → 207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726 → 746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:738 → 762
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163 → 247
      zf-C2H2_8; C2H2-type zinc ribbon

    12. NM_001366472.2 → NP_001353401.1  histone-lysine N-methyltransferase MECOM isoform e

      Status: REVIEWED

      Source sequence(s)
      AC078985
      Consensus CDS
      CCDS54669.1
      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (5) summary
      PHA00733
      Location:657 → 776
      PHA00733; hypothetical protein
      COG5189
      Location:114 → 207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:726 → 746
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:738 → 762
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163 → 247
      zf-C2H2_8; C2H2-type zinc ribbon

    13. NM_001366473.2 → NP_001353402.1  histone-lysine N-methyltransferase MECOM isoform h

      Status: REVIEWED

      Source sequence(s)
      AC078985, AL700380, BC031019, BG427944, DB225328, DC417787
      Conserved Domains (3) summary
      COG5048
      Location:289 → 631
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:590 → 610
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd19214
      Location:47 → 204
      PR-SET_PRDM3; PR-SET domain found in MDS1 and EVI1 complex locus protein and similar proteins

    14. NM_001366474.2 → NP_001353403.1  histone-lysine N-methyltransferase MECOM isoform i

      Status: REVIEWED

      Source sequence(s)
      AC078985, BF035536, BG427944, BX482681, DA588194, DA738166, DT219127
      Conserved Domains (4) summary
      PHA00733
      Location:333 → 452
      PHA00733; hypothetical protein
      COG5048
      Location:101 → 443
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:402 → 422
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:414 → 438
      zf-H2C2_2; Zinc-finger double domain

    15. NM_004991.4 → NP_004982.2  histone-lysine N-methyltransferase MECOM isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as MDS1/EVI1) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is longer than isoform a. There are no publicly available full-length transcripts representing this variant, but it is supported by cloning evidence in PMID:11050005.
      Source sequence(s)
      AK304098, AL700380, BC130520, BX647613, CR541866, DC348381
      Consensus CDS
      CCDS93425.1
      UniProtKB/TrEMBL
      C7FEN9
      Related
      ENSP00000498411.1, ENST00000651503.2
      Conserved Domains (5) summary
      smart00317
      Location:80 → 196
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      sd00017
      Location:923 → 943
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:921 → 943
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:935 → 959
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:351 → 432
      zf-C2H2_8; C2H2-type zinc ribbon

    16. NM_005241.4 → NP_005232.2  histone-lysine N-methyltransferase MECOM isoform b

      See identical proteins and their annotated locations for NP_005232.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as EVI1_1c) lacks a portion of the 5' UTR and 5' coding region, initiates translation at a downstream start codon, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 7 all encode the same isoform.
      Source sequence(s)
      AC078985, BC130520, BX647613, X54989
      Consensus CDS
      CCDS3205.1
      UniProtKB/TrEMBL
      C7FEN9
      Related
      ENSP00000486104.1, ENST00000628990.2
      Conserved Domains (6) summary
      PHA00733
      Location:689 → 785
      PHA00733; hypothetical protein
      COG5189
      Location:114 → 207
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:735 → 755
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:733 → 755
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:747 → 771
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:163 → 247
      zf-C2H2_8; C2H2-type zinc ribbon

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      169083507..169663712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005247214.4 → XP_005247271.1  histone-lysine N-methyltransferase MECOM isoform X2

      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (5) summary
      PHA00733
      Location:846 → 965
      PHA00733; hypothetical protein
      sd00017
      Location:915 → 935
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:913 → 935
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:927 → 951
      zf-H2C2_2; Zinc-finger double domain
      cd19214
      Location:47 → 204
      PR-SET_PRDM3; PR-SET domain found in MDS1 and EVI1 complex locus protein and similar proteins

    2. XM_005247213.4 → XP_005247270.1  histone-lysine N-methyltransferase MECOM isoform X1

      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (4) summary
      sd00017
      Location:924 → 944
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:922 → 944
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:936 → 960
      zf-H2C2_2; Zinc-finger double domain
      cd19214
      Location:47 → 204
      PR-SET_PRDM3; PR-SET domain found in MDS1 and EVI1 complex locus protein and similar proteins

    3. XM_047447690.1 → XP_047303646.1  histone-lysine N-methyltransferase MECOM isoform X16

    4. XM_047447688.1 → XP_047303644.1  histone-lysine N-methyltransferase MECOM isoform X14

    5. XM_047447682.1 → XP_047303638.1  histone-lysine N-methyltransferase MECOM isoform X9

    6. XM_047447679.1 → XP_047303635.1  histone-lysine N-methyltransferase MECOM isoform X6

    7. XM_047447689.1 → XP_047303645.1  histone-lysine N-methyltransferase MECOM isoform X15

    8. XM_047447680.1 → XP_047303636.1  histone-lysine N-methyltransferase MECOM isoform X7

    9. XM_011512546.3 → XP_011510848.1  histone-lysine N-methyltransferase MECOM isoform X5

      UniProtKB/TrEMBL
      C7FEN9
      Conserved Domains (4) summary
      sd00017
      Location:808 → 828
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:806 → 828
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:820 → 844
      zf-H2C2_2; Zinc-finger double domain
      cl40432
      Location:9 → 88
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily

    10. XM_047447678.1 → XP_047303634.1  histone-lysine N-methyltransferase MECOM isoform X4

    11. XM_047447677.1 → XP_047303633.1  histone-lysine N-methyltransferase MECOM isoform X3

    12. XM_047447687.1 → XP_047303643.1  histone-lysine N-methyltransferase MECOM isoform X13

    13. XM_005247221.3 → XP_005247278.1  histone-lysine N-methyltransferase MECOM isoform X12

      See identical proteins and their annotated locations for XP_005247278.1

      UniProtKB/TrEMBL
      A0A0C3SFZ7, C7FEN9
      Related
      ENSP00000420048.1, ENST00000472280.5
      Conserved Domains (4) summary
      sd00017
      Location:736 → 756
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:734 → 756
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:748 → 772
      zf-H2C2_2; Zinc-finger double domain
      cl40432
      Location:1 → 16
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily

    14. XM_047447694.1 → XP_047303650.1  histone-lysine N-methyltransferase MECOM isoform X20

    15. XM_047447692.1 → XP_047303648.1  histone-lysine N-methyltransferase MECOM isoform X18

    16. XM_047447693.1 → XP_047303649.1  histone-lysine N-methyltransferase MECOM isoform X19

    17. XM_047447691.1 → XP_047303647.1  histone-lysine N-methyltransferase MECOM isoform X17

    18. XM_047447686.1 → XP_047303642.1  histone-lysine N-methyltransferase MECOM isoform X13

    19. XM_047447685.1 → XP_047303641.1  histone-lysine N-methyltransferase MECOM isoform X12

      UniProtKB/TrEMBL
      A0A0C3SFZ7

    20. XM_047447684.1 → XP_047303640.1  histone-lysine N-methyltransferase MECOM isoform X11

    21. XM_047447681.1 → XP_047303637.1  histone-lysine N-methyltransferase MECOM isoform X8

    22. XM_047447683.1 → XP_047303639.1  histone-lysine N-methyltransferase MECOM isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      171867472..172447663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q03112.3 GenPept UniProtKB/Swiss-Prot:Q03112

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous